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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000443058.1:p.[Leu272_Asn276delinsPheGlyCysProGlu;Ile279_Asn283delinsHisGlnProGlyGln;Leu285_Asn301delinsValAlaGluGlnArgSerGlnLysHisProGlyCysCysThrAlaAla]
CA2695215762
ENST00000542729.5:c.815dup